Varaico: Literature-Extracted Genetic Variants

LRBA

433 papers

RefSeq Summary

The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein ass...

Pfam Domains

Neurobeachinaa 52–197UCSCNeurobeachin alpha solenoid region

Laminin_G_3aa 211–377UCSCConcanavalin A-like lectin/glucanases superfamily

DUF4704aa 441–921UCSCNeurobeachin/BDCP, DUF4704 alpha solenoid region

DUF1088aa 1880–2047UCSCNeurobeachin-like, DUF1088

PH_BEACHaa 2073–2170UCSCPH domain associated with Beige/BEACH

Beachaa 2202–2478UCSCBeige/BEACH domain

Gene Aliases

HGNC Name

LPS responsive beige-like anchor protein

HGNC Previous Symbol

CDC4L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001364905.1

p.Q487*

c.1459C>T

Surrounding Variants

1 paper

NM_001364905.1

p.Y485*

c.1455C>G

1 paper

NM_001364905.1

p.Y485*

c.1455C>A

1 paper

NM_001364905.1

p.L489_S490delins

c.1467_1468delinsAT

1 paper

NM_001364905.1

p.D484_D491insFs

c.1450_1472dup23

1 paper

NM_001364905.1

p.P478A

c.1432C>G

1 paper

NM_001364905.1

p.I497L

c.1489A>C

1 paper

NM_001364905.1

p.Q474*

c.1420C>T

1 paper

NM_001364905.1

p.I470F

c.1408A>T

1 paper

NM_001364905.1

p.M467T

c.1400T>C

14 papers

NM_001364905.1

p.M467V

c.1399A>G

1 paper

NM_001364905.1

p.Q464K

c.1390C>A

1 paper

NM_001364905.1

p.S462fs

c.1384_1385fs